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rhizomelic chondrodysplasia punctata type 2
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
- Dhapat Deficiency
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- Glyceronephosphate O-Acyltransferase Deficiency
- Gnpat Deficiency
- Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
- Rcdp2
- Definition
- A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0110852
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 8540 | AGPS | alkylglycerone phosphate synthase | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 347527 | ARSH | arylsulfatase family member H |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0008905 | Rhizomelia |
| HP:0000348 | High forehead |
| HP:0003301 | Irregular vertebral endplates |
| HP:0000218 | High palate |
| HP:0004322 | Short stature |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0011800 | Midface retrusion |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0000023 | Inguinal hernia |
